Linked Data
gnomAD v4:
16-23417098-ACAGT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23417101_23417104del , CM000678.2:g.23417101_23417104del | GRCh38 |
| NC_000016.9:g.23428422_23428425del , CM000678.1:g.23428422_23428425del | GRCh37 |
| NC_000016.8:g.23335923_23335926del | NCBI36 |
| NG_021287.1:g.41090_41093del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307149.10:c.1157_1160del MANE Select | ENSP00000305442.5:p.Asp386ValfsTer5 | |
| ENST00000307149.9:c.1157_1160del | ENSP00000305442.5:p.Asp386ValfsTer5 | |
| ENST00000567821.1:n.192_195del | ||
| NM_153603.3:c.1157_1160del | NP_705831.1:p.Asp386ValfsTer5 | |
| XR_429680.1:n.1373_1376del | ||
| XM_017023870.1:c.962_965del | XP_016879359.1:p.Asp321ValfsTer5 | |
| XR_002957852.1:n.1378_1381del | ||
| XR_429680.2:n.1378_1381del | ||
| NM_153603.4:c.1157_1160del MANE Select | NP_705831.1:p.Asp386ValfsTer5 |